Code System Concept

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Code System Concept

Code System Concept Code	725286002
Code System Concept Name	Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)
Code System Preferred Concept Name	Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	07/31/2017
SDO Date Created	07/31/2017
SDO Date Revised	07/31/2017
Description	A rare autosomal recessively inherited disorder of ketone body metabolism, characterised clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycaemia and in rare cases coma. Patients are mostly asymptomatic between acute episodes. This disease requires an early diagnosis in order to avoid hypoglycaemic crisis that can lead to permanent brain damage or death. Caused by homozygous or compound heterozygous mutation in the HMGCS2 gene on chromosome 1p12.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3440704014	3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency	Active	Synonym	false	false
3440705010	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	Active	Synonym	false	false
3440706011	Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase	Active	Synonym	false	false
3440707019	HMG-coenzyme A synthase deficiency	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Disorder of fatty acid metabolism (disorder) {39929009 , SNOMED-CT } Specific enzyme deficiency (disorder) {129456006 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,